Mutation spectrum analysis of DMD gene in Indonesian Duchenne and Becker muscular dystrophy patients

Background: Duchenne muscular dystrophy (DMD) and Becker (BMD) are allelic disorders caused by mutations in the DMD gene. The full mutation spectrum of DMD gene Indonesian patients is currently unknown. Mutation-specific therapies being developed, such as exon skipping or stop codon read-through therapy. This study was conducted with aim identifying Indonesia to guide future development application feasible therapeutic strategies. Methods: a cross sectional that enrolled 43 male clinical suspicion or BMD. Multiplex ligation-dependent probe amplification (MLPA) reaction performed screen for common the DMD gene. Results: Out subjects, deletions accounted 69.77% (n=30) cases, while duplications were found 11.63% (n=5) cases. One novel duplication spanning exons 2 62 identified. Deletion clustered around distal (66.67%) proximal (26.67%) hot spot regions gene observed solely at region. Two false positive cases single deletion detected through MLPA attributed sequence affecting primer ligation sites, confirming need validate all when using this screening method. Analysis available maternal DNA samples showed rate de novo (48.15%) appears higher than expected population. 31 who classified based on genotype characterizations, 60.47% (n=26) suitable Conclusion: first comprehensive showing feasibility implementing method routine Indonesia. also potential applicability therapy majority of DMD country.